Amid the pandemic and the scientific advancements in the medical field, there still seems to be diseases out there that need to be discovered. A group of researchers from the National Institutes of Health (NIH) found a deadly inflammatory disease recently, which was said to have killed 40 percent of the patients who were under study.
A study titled, "Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease," which was published in the New England Journal of Medicine, revealed that researchers were able to discover a new inflammatory disorder which was caused by mutations of a gene.
What is VEXAS syndrome?
The disorder was called VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome), an inflammatory disease caused by a mutation in the UBA1 gene. The disease would cause symptoms, which included recurrent fevers, blood clots, and unusual cavity-like structures in the myeloid cells.
The researchers at the National Human Genome Research Institute (NHGRI), which is a part of NIH, studied more than 2,500 individuals who had undiagnosed inflammatory diseases. They studied genome sequences, particularly those that help in regulating both protein functions in the cells and the immune system overall. Their process led to the discovery of a gene closely intertwine with the life-threatening disease VEXAS. The researchers noted that about 40 percent of the patients that they studied died, indicating the severity of the disease.
Dr David Beck, lead author of the study and a clinical fellow at NHGRI stated that they have so many patients coming to the NIH with inflammatory conditions, but they were not able to diagnose them. So what they did was to start with a list of genes, and then, they studied the genomes of those who were not yet diagnosed.
What are the symptoms of VEXAS
Out of the 800 genes that they studied, there was one that stood out, the UBA1 gene. They observed that there were three middle-aged men who had potentially damaging genomic variants. In the three males, each had two copies of UBA1, and one of the copies harbours the mutation. Further research found that there were 22 more adult males who exhibited the same kind of mutation, and showed symptoms that included recurrent fevers, blood clots in veins, pulmonary abnormalities, and vacuoles.
The researchers then grouped the conditions and called it a new disease, VEXAS. They are hoping that with the new discovery, they would be able to help healthcare professionals in their assessments of inflammatory-related conditions.